LOCUS       NM_002677               3524 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens peripheral myelin protein 2 (PMP2), transcript variant
            1, mRNA.
ACCESSION   NM_002677
VERSION     NM_002677.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3524)
  AUTHORS   Uusitalo,M., Klenow,M.B., Laulumaa,S., Blakeley,M.P.,
            Simonsen,A.C., Ruskamo,S. and Kursula,P.
  TITLE     Human myelin protein P2: from crystallography to time-lapse
            membrane imaging and neuropathy-associated variants
  JOURNAL   FEBS J 288 (23), 6716-6735 (2021)
   PUBMED   34138518
  REMARK    GeneRIF: Human myelin protein P2: from crystallography to
            time-lapse membrane imaging and neuropathy-associated variants.
REFERENCE   2  (bases 1 to 3524)
  AUTHORS   Abe,M., Makino,A., Murate,M., Hullin-Matsuda,F., Yanagawa,M.,
            Sako,Y. and Kobayashi,T.
  TITLE     PMP2/FABP8 induces PI(4,5)P2-dependent transbilayer reorganization
            of sphingomyelin in the plasma membrane
  JOURNAL   Cell Rep 37 (6), 109935 (2021)
   PUBMED   34758297
  REMARK    GeneRIF: PMP2/FABP8 induces PI(4,5)P2-dependent transbilayer
            reorganization of sphingomyelin in the plasma membrane.
REFERENCE   3  (bases 1 to 3524)
  AUTHORS   Ruskamo,S., Krokengen,O.C., Kowal,J., Nieminen,T., Lehtimaki,M.,
            Raasakka,A., Dandey,V.P., Vattulainen,I., Stahlberg,H. and
            Kursula,P.
  TITLE     Cryo-EM, X-ray diffraction, and atomistic simulations reveal
            determinants for the formation of a supramolecular myelin-like
            proteolipid lattice
  JOURNAL   J Biol Chem 295 (26), 8692-8705 (2020)
   PUBMED   32265298
  REMARK    GeneRIF: Cryo-EM, X-ray diffraction, and atomistic simulations
            reveal determinants for the formation of a supramolecular
            myelin-like proteolipid lattice.
REFERENCE   4  (bases 1 to 3524)
  AUTHORS   Geroldi,A., Prada,V., Veneri,F., Trevisan,L., Origone,P.,
            Grandis,M., Schenone,A., Gemelli,C., Lanteri,P., Fossa,P.,
            Mandich,P. and Bellone,E.
  TITLE     Early onset demyelinating Charcot-Marie-Tooth disease caused by a
            novel in-frame isoleucine deletion in peripheral myelin protein 2
  JOURNAL   J Peripher Nerv Syst 25 (2), 102-106 (2020)
   PUBMED   32277537
  REMARK    GeneRIF: Early onset demyelinating Charcot-Marie-Tooth disease
            caused by a novel in-frame isoleucine deletion in peripheral myelin
            protein 2.
REFERENCE   5  (bases 1 to 3524)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3524)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   7  (bases 1 to 3524)
  AUTHORS   Hayasaka,K., Nanao,K., Tahara,M., Sato,W., Takada,G., Miura,M. and
            Uyemura,K.
  TITLE     Isolation and sequence determination of cDNA encoding P2 protein of
            human peripheral myelin
  JOURNAL   Biochem Biophys Res Commun 181 (1), 204-207 (1991)
   PUBMED   1720307
REFERENCE   8  (bases 1 to 3524)
  AUTHORS   Narayanan,V., Barbosa,E., Reed,R. and Tennekoon,G.
  TITLE     Characterization of a cloned cDNA encoding rabbit myelin P2 protein
  JOURNAL   J Biol Chem 263 (17), 8332-8337 (1988)
   PUBMED   2453513
REFERENCE   9  (bases 1 to 3524)
  AUTHORS   Jones,T.A., Bergfors,T., Sedzik,J. and Unge,T.
  TITLE     The three-dimensional structure of P2 myelin protein
  JOURNAL   EMBO J 7 (6), 1597-1604 (1988)
   PUBMED   2458918
REFERENCE   10 (bases 1 to 3524)
  AUTHORS   Ishaque,A., Hofmann,T. and Eylar,E.H.
  TITLE     The complete amino acid sequence of the rabbit P2 protein
  JOURNAL   J Biol Chem 257 (2), 592-595 (1982)
   PUBMED   6172423
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA160405.1, BC034997.1 and
            AC018616.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002677.4.
            
            Summary: The protein encoded by this gene localizes to myelin
            sheaths of the peripheral nervous system. The encoded protein can
            bind both the membrane layers of the sheaths and monomeric lipids,
            and is thought to provide stability to the sheath. A defect in this
            gene was shown to be a cause of dominant demyelinating CMT
            neuropathy. [provided by RefSeq, Jan 2017].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC034997.1, SRR1660807.232591.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467147, SAMEA2467150
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000256103.3/ ENSP00000256103.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-501               DA160405.1         85-585
            502-1440            BC034997.1         552-1490
            1441-1441           AC018616.5         64783-64783
            1442-2054           BC034997.1         1492-2104
            2055-2329           BC034997.1         2107-2381
            2330-2747           BC034997.1         2386-2803
            2748-2748           AC018616.5         66090-66090
            2749-3524           BC034997.1         2805-3580
FEATURES             Location/Qualifiers
     source          1..3524
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.13"
     gene            1..3524
                     /gene="PMP2"
                     /gene_synonym="CMT1G; FABP8; M-FABP; MP2; P2"
                     /note="peripheral myelin protein 2"
                     /db_xref="GeneID:5375"
                     /db_xref="HGNC:HGNC:9117"
                     /db_xref="MIM:170715"
     exon            1..126
                     /gene="PMP2"
                     /gene_synonym="CMT1G; FABP8; M-FABP; MP2; P2"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..452
                     /gene="PMP2"
                     /gene_synonym="CMT1G; FABP8; M-FABP; MP2; P2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     myelin P2 protein"
                     /codon_start=1
                     /product="myelin P2 protein isoform 1"
                     /protein_id="NP_002668.1"
                     /db_xref="CCDS:CCDS6229.1"
                     /db_xref="GeneID:5375"
                     /db_xref="HGNC:HGNC:9117"
                     /db_xref="MIM:170715"
                     /translation="MSNKFLGTWKLVSSENFDDYMKALGVGLATRKLGNLAKPTVIIS
                     KKGDIITIRTESTFKNTEISFKLGQEFEETTADNRKTKSIVTLQRGSLNQVQRWDGKE
                     TTIKRKLVNGKMVAECKMKGVVCTRIYEKV"
     exon            127..299
                     /gene="PMP2"
                     /gene_synonym="CMT1G; FABP8; M-FABP; MP2; P2"
                     /inference="alignment:Splign:2.1.0"
     exon            300..401
                     /gene="PMP2"
                     /gene_synonym="CMT1G; FABP8; M-FABP; MP2; P2"
                     /inference="alignment:Splign:2.1.0"
     exon            402..3524
                     /gene="PMP2"
                     /gene_synonym="CMT1G; FABP8; M-FABP; MP2; P2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3499..3504
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMP2"
                     /gene_synonym="CMT1G; FABP8; M-FABP; MP2; P2"
                     /note="hexamer: AATATA"
     polyA_site      3524
                     /gene="PMP2"
                     /gene_synonym="CMT1G; FABP8; M-FABP; MP2; P2"
                     /note="major polyA site"
ORIGIN      
        1 atctgagtct tctgaatccc acttagaact gtgttgagct ctcacccatc acgatgagca
       61 acaaattcct gggcacctgg aaacttgtct ctagtgagaa ctttgacgat tacatgaaag
      121 ctctgggtgt ggggttagcc accagaaaac tgggaaattt ggccaaaccc actgtgatca
      181 tcagcaagaa aggagatatt ataactatac gaactgaaag tacctttaaa aatacagaaa
      241 tctccttcaa gctaggccag gaatttgaag aaaccacagc tgacaataga aagaccaaga
      301 gcatcgtaac cctgcagaga ggatcactga atcaagtgca gagatgggat ggcaaagaga
      361 caaccataaa gagaaagcta gtgaatggga aaatggtagc ggaatgtaaa atgaagggcg
      421 tggtgtgcac cagaatctat gagaaggtct gaaaaatcat ttcttcattg aagtggcttt
      481 ttatcattta atgatggaaa tcaattgctt ccattgacaa aactgaatac actgcaaata
      541 tttgtttttg cttttgtctt aatatatcag atatgcaaag gcctaaactg agaattaatc
      601 taaaagtcag tgttatttaa acattttcaa tgtgcatgca tgtcattatt acatcaaagc
      661 atatatattg gccagacaca aacagttgat gatgtcattc aattaactac aaaattctaa
      721 tctatgttga actttgtata cttgaaatga taataaaaag gatataattt cttagtaaaa
      781 tgaaatcaaa gtattgatca gggtagcaaa ctcaaatgct gacaggggcc agaggagata
      841 tggggaagga gcatcagaaa tgaggcaagc taggagaatg ggctattata atgtaaagaa
      901 ttgtagtctc agttaaaagg ggtagcctct actccagcca acattttaaa attaatggat
      961 aatttataga cagttaaatt tatagacagt taagtaaaaa tggataattt atagacagat
     1021 aatttataga caggtaaatg tgagttaaat ataactcaca tcccactcaa gacacaaaac
     1081 attttcttaa tcctagtaca tttttttctg tcccttccca atcagtgtcc ttttctgttc
     1141 cacccctacc aaaagcaagt agtggtttgg tttctatcat atagattaat tttacctgct
     1201 catatgaagg gaattgtaca tcatgcattc ttttctgttt gcctttttta aattcagcat
     1261 catgtttttg tgatacatcc acattgttgc atgcagctgt agtttgtttc tttttattac
     1321 caagtactat ttcattgtat gaatatatca cagtttatcc attctactat taagacaatt
     1381 gagctatttc taattttcgg ctgctatgaa taaagctgct acaaatattt ttgtacaaga
     1441 ctttttgtaa acataggagt ccctttattt taaataaata actagtcata tcattaggtc
     1501 cagtaattgt tgacaggcag gaacggggga ccattgcatt gtgcccaagt aataataaaa
     1561 ctatttcaga tgtattatat gattgagcaa atgagaaaac atgttgatgt tgatgggagt
     1621 caggatgttc actatggaaa aacaaatata caaatatgaa atgagggaag gcaagaaaga
     1681 accatgtgga aatggaatag aattggtata aattcataat ttctaaacca tgtatatgta
     1741 cgtttatatg tattataatt gcatacacat gcctccatgc atatatgtgt gtgataatac
     1801 acatgcattt atgtgcgtgt gtgtatacac atgcatatat ttactaatcc tatctgccaa
     1861 aatggcttag acacaaaaac acctcagcag aaatgaatat acctagcact cagatcttcg
     1921 tgtctaatat agtttgccac taaaaggaac caaggctact tggaaaaatg gatgattcca
     1981 aagcaagggc aaggtaggaa caagatgagc ttgaaatatc ttgttatgcc agaaagtaat
     2041 gttaaaaaaa aaaatagagg tatattgcca aaacatagag ccagcttgaa ggggctccca
     2101 ctggccaaac ttgagccaat ctgagagcaa aataattgag aaaaataaat aacaagataa
     2161 ttgagaaaaa aataaaataa attcccaatt ccattgggaa aaaatagaaa tccatgaatc
     2221 catactgata taatgataga taatcgatag ataggtagat gactgacaga tgatagatag
     2281 atatatagat agatagatag atagatagat agatagatag atagatagag aaatgagaag
     2341 gtttctcttt tgcaatagaa cgtcatggac cagtgttaaa tgtgagtgga aggagttctg
     2401 gaattggaaa accatcattt ttcaaccatc acagtaaata tggctcaggc aagaattatc
     2461 aatcaatgct aaagctaggg ggaaatttcg cttaggagca ggatattagg gtattagtct
     2521 gggcttaaag tatctcctca cagattgttg ttagtttctg gggaaagaat agtaaccatg
     2581 caatggaaaa aaatggacaa cctcttgact aggttatcaa aattaacctc accaataaag
     2641 ggtggatgtt caacatgtgc cttcaaatgt gacccactga gaaggaaaca acatcactgt
     2701 aacaacaaca accagaaacg acagggggtt ttgactgaat tcttcaaaaa tgtcaatgtc
     2761 atagaagaca aagaaaggtt gtggaaatgt ttcagattaa atgatagtaa aaacacctga
     2821 caactaaaca tagtaagtaa tactagactg gattctgtac cagaggtaac ataagtgctc
     2881 caaaggacaa tgttaggtca actggcaaat tggaatatag acagtcaatc agataagaag
     2941 tatactttga ttaagtaaaa aaaatcccta ttcttggaaa atacacaata aagtattttg
     3001 aggtaaaggg ccataatgta tgcaatctac tctcaaaaaa ttcagaaaca tatatttgtg
     3061 tgcatttgca tgtgcaacag tacacacaaa catacataaa gagagcaatt gataaggcaa
     3121 ataaggtaac atttaacaat aatctgatac acataaatag agaaagagca attgataaag
     3181 taaatgaggt aaaatttaac aataatctga gcaaaaggta tatgtgtttt ctttgagaca
     3241 gtctgattct tgcaacttat tctgtaagtt ggaacttatt tccaaacatg attgaaaaaa
     3301 aaccccgcac ttggcaactt cttctctttt tcagcctaga aatgtctgtg ttaagtggtt
     3361 ttttatttat tgttgttgtt tgttgttatt gttgttttgt tgccaggctc caactcacaa
     3421 aatacgagtt taaaaactgc gttgttattt ttagagattt gtgataatac aacttgttat
     3481 aaaatttatt cctcaataaa tataatttct ctactatgca aaaa
//
